Kaitlyn D’Onofrio

DocwireNews

Often, genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) focus largely on children, leaving a scarcity of data regarding adult patients. A study published in Genetics in Medicine analyzed genetic associations of NDDE in adults and elderly patients.
A total of 150 patients with NDDE underwent conventional karyotyping, FMR1 testing, chromosomal microarray, and panel sequencing. When cases remained unresolved, exome sequencing was performed.
Likely pathogenic variants were discovered in 71 patients; these were primarily single-nucleotide variants (n=49), with 23 cases of disease-causing copy number and one case of fragile X syndrome. Multiple independent genetic diagnoses were identified in seven patients. An association was observed between diagnostic yield and severity of intellectual disability. For patients who sustained possibly related events early in their life that could not definitively be tied to their disorder, the yield was 58.3%. Overall, 45.1% of patients underwent screening for disease-specific comorbidities, and 11.8% had direct treatment consequences.
“Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE,” the study authors concluded.
Source: Genetics in Medicine (<a href="https://www.nature.com/articles/s41436-021-01153-6">https://www.nature.com/articles/s41436-021-01153-6</a>)

Mithu Maheswaranathan, MD

Acetaminophen Safety in the Elderly and Under-recognized Risks

Rheumatology

Emily Menendez

Tislelizumab Receives FDA Approval for First-Line Treatment of G/GEJ Cancer in Conjunction With Chemotherapy

Gastric Cancer

Rob Dillard

Study Finds Link Between Metastatic Breast Cancer and Heart Disease

Breast Cancer News

Latest News

Genetic Associations of Neurodevelopmental Disorders with Epilepsy in Adults

Epilepsy

Often, genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) focus largely on children, leaving a scarcity of data regarding adult patients. A study ...

About Us

Editorial Policy

Advertising

eNewsletters

Contribute

Contact Us

MashupMD

Blood Cancers Today

Cancer Nursing Today

GU Oncology Now

Urban Health Today

Bile Duct Cancer

Colorectal Cancer

Gastroesophageal Cancer

GEP-NETs

GIST

Liver Cancer

Pancreatic Cancer

GI Oncology Now

Anemia

Deep Vein Thrombosis

Essential Thrombocythemia

Hemophilia

Immune Thrombocytopenic Purpura

Myelodysplastic Syndromes

Myelofibrosis

Myeloproliferative Neoplasms

Polycythemia Vera

Pulmonary Embolism

Sickle Cell Disease

Thrombocytopenia

Thrombophilia

Thrombosis

Thrombotic Thrombocytopenic Purpura

Venous Thromboembolism

von Willebrand Disease

Heme Today

Acute Kidney Injury

ADPKD

Anemia and Kidney Disease

Chronic Kidney Disease

COVID-19 and Kidney Disease

Diabetes and Hypertension

End-Stage Renal Disease

Gout

Hyperkalemia

IgAN

Kidney Transplantation

Metabolic Acidosis

Nephrology Times

Mesothelioma

Non-Small Cell Lung Cancer

Small Cell Lung Cancer

Squamous Cell Lung Carcinoma

Lung Cancers Today

Atherosclerotic Disease

Atrial Fibrillation

Heart Failure

Hypertension

Interventional Cardiology

Lipid Management

Practice Tips With Dr. Lichaa

Preventive Cardiology

Stroke

Cardiology

Breast Cancer

Gynecologic Cancer

Head and Neck Cancer

Skin Cancer

Oncology

Sleep

Urology

Diabetes

Ophthalmology

— Demodex Blepharitis

Neurology

Gastroenterology

Pulmonology

Infectious Diseases

— HIV

Health and Wellness

Lupus

Future of Medicine

Orthopedics

Pharmacology

Career News

More

Conferences

CardioNerds

The Sleep Source With Dr. Morse

The Oncology Brothers

Rheumatology Rounds With Dr. Maheswaranathan

Healthcare Unfiltered

The Fellow on Call

Partners

Hurricanes & Health Care

Career Center

Expert Interviews

Subscribe